المؤلفون: Raquel Gouveia Silva, Juliette Dupont, Eduardo Silva, Ana Berta Sousa

مصطلحات موضوعية: Ophthalmology, Phenotype, Optic Nerve Hypoplasia, HDE OFT, Pediatrics, Perinatology and Child Health, F-Box Proteins* / genetics, Intellectual Disability* / genetics, Humans, Muscle Hypotonia, Protein-Arginine N-Methyltransferases / genetics, Eye Abnormalities

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3cb43fb0349f78f42ff533933847af7Test
https://hdl.handle.net/10400.17/4479Test

المؤلفون: Guiomar Oliveira, Marjan M. Weiss, Cristina Martins, Patrícia Maciel, Sónia Figueiroa, Diana Antunes, Cecília Martins, Gisela Barros, Susana Loureiro, C.C. Marques, Susana Sousa, Andreia Dias, Sofia Oliveira Lopes, Margarida Reis-Lima, Maria João Sá, Arminda Jorge, Céu Mota, Gabriela Soares, Fátima Torres, Mafalda Barbosa, Frederico Duque, João Silva, Maria José Cálix, Miguel Rocha, Elisa Cardoso, Catarina Gomes, Sara Cruz, Fátima Lopes, Sara Figueiredo, Purificação Tavares, Teresa Temudo, Ana Maria Fortuna, Juliette Dupont, Felisbela Rocha, Adriana Sampaio, Bauke Ylstra, Jorge Pinto-Basto, Paul P. Eijk, Paula Rendeiro, Sandra Mesquita, Susana Gama-de-Sousa, Joaquim Sá

المساهمون: Instituto de Investigação e Inovação em Saúde, Human genetics, Pathology, Universidade do Minho

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14(1):164. BioMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Lopes, F T, Torres, F T, Soares, G, Barbosa, M, Silva, J, Duque, F, Rocha, M, Sá, J, Oliveira, G, Sá, M J, Temudo, T, Sousa, S, Marques, C, Lopes, S, Gomes, C, Barros, G, Jorge, A, Rocha, F, Martins, C, Mesquita, S, Loureiro, S, Cardoso, E M, Cálix, M J, Dias, A, Martins, C, Mota, C U R, Antunes, D, Dupont, J, Figueiredo, S, Figueiroa, S N, Gama-de-Sousa, S, Cruz, S, Sampaio, A, Eijk, P, Weiss, M M, Ylstra, B, Rendeiro, P, Tavares, P, Reis-Lima, M, Pinto-Basto, J, Fortuna, A M & Maciel, P 2019, ' Genomic imbalances defining novel intellectual disability associated loci ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 164, pp. 164 . https://doi.org/10.1186/s13023-019-1135-0Test, https://doi.org/10.1186/s13023-019-1135-0Test
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Genotype-phenotype correlation, endocrine system diseases, Medicina Básica [Ciências Médicas], Neurodevelopment, lcsh:Medicine, Disease, 030105 genetics & heredity, 0302 clinical medicine, Intellectual disability, Pharmacology (medical), Copy-number variation, Genetics (clinical), Genetics, Comparative Genomic Hybridization, General Medicine, Genomics, Phenotype, 3. Good health, Pedigree, Ciências Médicas::Medicina Básica, Female, DNA Copy Number Variations, Copy number analysis, Biology, Histone-Lysine N-Methyltransferase / genetics, 03 medical and health sciences, DNA Copy Number Variations / genetics, Intellectual Disability, mental disorders, medicine, Humans, Intellectual Disability / genetics, Genetic Association Studies, CNVs, Chromosome Aberrations, Science & Technology, Research, lcsh:R, Histone-Lysine N-Methyltransferase, medicine.disease, Human genetics, CNVs, Neurodevelopment, Genotype-phenotype correlation, CUL4B overexpression, Etiology, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a79b20530bd567d73d202397027baceTest
https://hdl.handle.net/10216/139000Test

المؤلفون: B. van Lier, Luis A. Pérez-Jurado, Alexander Hoischen, Periklis Makrythanasis, I. van der Burgt, Ann Nordgren, Alexandre Reymond, Britt-Marie Anderlid, M. del Campo, Ivon Cuscó, L. Toledo, Jacqueline Schoumans, C. M. Kets, B W M van Bon, Michael A. Simpson, M. Ruiterkamp-Versteeg, Juliette Dupont, Margherita Silengo, E. Frysira, L. Izatt, Lucia Micale, Willie Reardon, Stavroula Psoni, Patricia Dias, Helger G. Yntema, Nicole Revencu, Joris A. Veltman, Bartolomeo Augello, Juliane Hoyer, Isabel Cordeiro, Tony Roscioli, Giuseppe Merla, Ernie M.H.F. Bongers, M. Bhat, Christian Gilissen, Stylianos E. Antonarakis, H. G. Santos, E. Galan, Elisa Biamino, Peer Arts, Blanca Gener, Shehla Mohammed, A. M. Cueto-Gonzalez, Marloes Steehouwer, Richard C. Trembath, Carlo Marcelis, B. B. A. de Vries, Christiane Zweier, Han G. Brunner, B. Rodriguez-Santiago, Raquel Flores, Charu Deshpande, Janneke H M Schuurs-Hoeijmakers, S. A. de Munnik, Ana Medeira, Teresa Vendrell, David A. Koolen, S. M. Granneman

المصدر: Clinical Genetics. 84:539-545

مصطلحات موضوعية: medicine.medical_specialty, media_common.quotation_subject, Nonsense, Bioinformatics, medicine.disease_cause, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Coding region, Missense mutation, Gene, Genetics (clinical), 030304 developmental biology, media_common, 0303 health sciences, Mutation, Sotos syndrome, business.industry, medicine.disease, Phenotype, business, Kabuki syndrome, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::39eaa9d360ba5272c5f971c1f5c02e9aTest
https://doi.org/10.1111/cge.12081Test

المؤلفون: Josephine Wincent, Elena Dominguez Garrido, Adam Shaw, Benjamin D. Solomon, Julien Van Gils, Catherine Vincent-Delorme, Christine M. Armour, Katherine Lachlan, Agnieszka Stembalska, Alexandra Afenjar, Dragana Josifova, Patricia Fergelot, Oliver Bartsch, Tiffany Busa, Benoit Arveiler, Samuel Gebre-Medhin, Amaia Sojo, Paulien A. Terhal, Willie Reardon, Jukka S. Moilanen, Lidia Larizza, Saskia M. Maas, S. Thomas, Cristina Gervasini, Dorien J.M. Peters, Lex Beets, Nathalie Dorison, Robert Smigiel, Martine J. van Belzen, Constance T. R. M. Stumpel, Juliette Dupont, Raoul C.M. Hennekam, Julie Deforges, Philippe Parent, Didier Lacombe, Ann Nordgren, Lydie Burglen, Alain Verloes, Bruno Maranda, Marion Gérard, Joelle Roume, Marie Collet, Blanca Gener Querol, Renaud Touraine, Marlène Rio, Christine Francannet, Alice Goldenberg, Elisabeth Gabau Vila, Sixto García-Miñaur, David Geneviève, Bert B.A. de Vries, Francisco Suarez, Julia Rankin

المساهمون: ANS - Complex Trait Genetics, Human Genetics, APH - Amsterdam Public Health, Paediatric Genetics, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Genetica & Celbiologie, Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Maladies Rares - Génétique et Métabolisme (MRGM), Université Bordeaux Segalen - Bordeaux 2-Hôpital Pellegrin-Service de Génétique Médicale du CHU de Bordeaux, Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Jérôme Lejeune, CHU Clermont-Ferrand, Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHRU de Brest - Département de Pédiatrie (CHU BREST Pédiatrie), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHI Poissy-Saint-Germain, CHU Saint-Etienne, AP-HP Hôpital universitaire Robert-Debré [Paris], Service de Génétique Médicale [Lille], Institut de génétique médicale-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)

المصدر: American journal of medical genetics. Part A, 170(12), 3069-3082. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 3069-3082
American Journal of Medical Genetics Part A, 170(12), 3069-3082. Wiley
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (12), pp.3069-3082. ⟨10.1002/ajmg.a.37940⟩
American Journal of Medical Genetics Part A, 170(12), 3069-3082
American Journal of Medical Genetics Part A, 2016, 170 (12), pp.3069-3082. ⟨10.1002/ajmg.a.37940⟩
American Journal of Medical Genetics. Part A, 170(2), 3069–3082. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 12, pp. 3069-3082

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, pre-eclampsia, Genotype, phenotype, genotype, Mutation, Missense, Biology, medicine.disease_cause, Bioinformatics, 03 medical and health sciences, Pregnancy, medicine, Genetics, Journal Article, Humans, Missense mutation, Genetic Predisposition to Disease, Genetics(clinical), EP300, Genetic Association Studies, Genetics (clinical), Rubinstein-Taybi syndrome, Sequence Deletion, Mutation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Rubinstein–Taybi syndrome, Middle Aged, Chromatin Assembly and Disassembly, medicine.disease, CREB-Binding Protein, Phenotype, Developmental disorder, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Female, E1A-Associated p300 Protein, Pre-eclampsia

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af369f31b9af763ef2d159d840ca4583Test
https://pure.amc.nl/en/publicationsTest/phenotype-and-genotype-in-52-patients-with-rubinsteintaybi-syndrome-caused-by-ep300-mutations(8425e627-d92b-4cb6-a6a8-e5b3d907507e).html

المؤلفون: Juliette Dupont, Ana Isabel Lopes, Sara Brito, Marta Isabel Póvoas

المصدر: BMJ Case Reports. :bcr2015211345

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Colon, Mucocutaneous zone, Mutation, Missense, Peutz-Jeghers Syndrome, STK11, Colonic Polyps, Peutz–Jeghers syndrome, Protein Serine-Threonine Kinases, Gene mutation, Gastroenterology, Article, Polyps, AMP-Activated Protein Kinase Kinases, Intussusception (medical disorder), Internal medicine, Intestine, Small, medicine, Humans, Medical history, Child, Ileal Diseases, Genetic heterogeneity, business.industry, Stomach, Genetic Variation, Exons, General Medicine, medicine.disease, digestive system diseases, Phenotype, Child, Preschool, business, Intussusception, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7302331481b6fb25a004e96e17be92Test
https://doi.org/10.1136/bcr-2015-211345Test